Canonical Allele Identifier: CA5571347

Gene: POLR3A

Linked Data

• dbSNP Id: rs771874455
• ExAC: 10:79769645 G / C
• gnomAD v2: 10-79769645-G-C
• gnomAD v4: 10-78009887-G-C
• MyVariant Identifiers: chr10:g.79769645G>C (hg19) ; chr10:g.78009887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78009887G>C , CM000672.2:g.78009887G>C	GRCh38
NC_000010.10:g.79769645G>C , CM000672.1:g.79769645G>C	GRCh37
NC_000010.9:g.79439651G>C	NCBI36
NG_029648.1:g.24654C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698728.1:n.1326C>G
ENST00000698729.1:n.2872C>G
ENST00000698730.1:n.2872C>G
ENST00000698731.1:c.1606C>G	ENSP00000513898.1:p.Leu536Val
ENST00000698732.1:c.*608C>G	ENSP00000513899.1:n.*608C>G
ENST00000698733.1:c.*934C>G	ENSP00000513900.1:n.*934C>G
ENST00000698734.1:c.1747C>G	ENSP00000513901.1:p.Leu583Val
ENST00000698735.1:n.1862C>G
ENST00000698736.1:n.1862C>G
ENST00000698737.1:n.1862C>G
ENST00000698738.1:n.1862C>G
ENST00000698739.1:n.1862C>G
ENST00000372371.8:c.1747C>G MANE Select	ENSP00000361446.3:p.Leu583Val
ENST00000372371.7:c.1747C>G	ENSP00000361446.3:p.Leu583Val
ENST00000473588.2:c.549C>G
NM_007055.3:c.1747C>G	NP_008986.2:p.Leu583Val
NM_007055.4:c.1747C>G MANE Select	NP_008986.2:p.Leu583Val